MSH2 c.182A>T ;(p.Q61L)

Variant ID: 2-47630512-A-T

NM_000251.2(MSH2):c.182A>T;(p.Q61L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 182A>T; Gln61Leu
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q61L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Whole-exome sequencing of ovarian cancer families uncovers putative predisposition genes.

International Journal Of Cancer
Zhu, Qianqian Q; Zhang, Jianmin J; Chen, Yanmin Y; Hu, Qiang Q; Shen, He H; Huang, Ruea-Yea RY; Liu, Qian Q; Kaur, Jasmine J; Long, Mark M; Battaglia, Sebastiano S; Eng, Kevin H KH; Lele, Shashikant B SB; Zsiros, Emese E; Villella, Jeannine J; Lugade, Amit A; Yao, Song S; Liu, Song S; Moysich, Kirsten K; Odunsi, Kunle O KO
Publication Date: 2020-04-15

Variant appearance in text: MSH2: Q61L
PubMed Link: 31265121
Variant Present in the following documents:
View BVdb publication page



Mutations of epigenetic regulatory genes are common in thymic carcinomas.

Scientific Reports
Wang, Yisong Y; Thomas, Anish A; Lau, Christopher C; Rajan, Arun A; Zhu, Yuelin Y; Killian, J Keith JK; Petrini, Iacopo I; Pham, Trung T; Morrow, Betsy B; Zhong, Xiaogang X; Meltzer, Paul S PS; Giaccone, Giuseppe G
Publication Date: 2014-12-08

Variant appearance in text: MSH2: Q61L
PubMed Link: 25482724
Variant Present in the following documents:
  • srep07336-s1.pdf
View BVdb publication page